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Radiohumeral fusions with other skeletal and craniofacial anomalies

Overview

Type of Disease:Genetic, autosomal recessiveCongenital onset

Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) is an inherited disease affecting newborn babies. It is also known as lethal occipital encephalocele-skeletal dysplasia syndrome or syndromic craniosynostosis. Newborns will present with RHFCA if they inherit two mutated CYT26B1 genes, one from each parent. Babies with blood-related parents may have an increased risk of getting the disease.

Babies with RHFCA might have unusual growth of skull bones including an encephalocele, a sac-like growth that usually grows at the back of the head. Babies with this disease could have fewer than ten fingers or toes that are abnormally long and thin like spider fingers. They could have joining of 2 arm bones, the radius and humerus, that can limit the movement of their arm. You may notice a smaller skull size due to a smaller length than the width of the skull.

If a family member has been diagnosed with RHFCA, talk to your doctor about the most current treatment options and resources. Support groups are also good sources for information.